R48K (p.Arg48Lys) variant of F8 (Coagulation factor VIII)
R48K (p.Arg48Lys) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary factor IX deficiency disease; Hereditary factor VIII deficiency disea. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R48K (p.Arg48Lys) variant details
- p.Arg48Lys
- rs1261929809
- ClinGen CA414920430
- ClinVar RCV000852028
- ClinVar RCV005633669
- Likely pathogenic
- Hereditary factor IX deficiency disease; Hereditary factor VIII deficiency disea
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- AlphaMissense 0.14
- MetaLR 0.84
- MetaSVM 0.93
- PolyPhen-2 0.90
- SIFT 0.13
- MutPred 0.79
- ClinVar: Likely pathogenic (Hereditary factor IX deficiency disease; Hereditary factor VIII)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Population evidence available
- Structural context available
- Cited in: Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a… (PMID 8644728)
- Cited in: Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with… (PMID 10215414)